Canonical Allele Identifier: CA4293242

Gene: ELN

Linked Data

• ClinVar Variation Id: 911325
• ClinVar RCV Id: RCV001163706 ; RCV001163707
• dbSNP Id: rs781963804
• ExAC: 7:73477515 G / C
• gnomAD v2: 7-73477515-G-C
• gnomAD v3: 7-74063185-G-C
• gnomAD v4: 7-74063185-G-C
• MyVariant Identifiers: chr7:g.73477515G>C (hg19) ; chr7:g.74063185G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74063185G>C , CM000669.2:g.74063185G>C	GRCh38
NC_000007.13:g.73477515G>C , CM000669.1:g.73477515G>C	GRCh37
NC_000007.12:g.73115451G>C	NCBI36
NG_009261.1:g.40089G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692049.1:c.2005G>C	ENSP00000510104.1:p.Gly669Arg
ENST00000252034.12:c.1819G>C MANE Select	ENSP00000252034.7:p.Gly607Arg
ENST00000252034.11:c.1819G>C	ENSP00000252034.7:p.Gly607Arg
ENST00000320399.10:c.1918G>C	ENSP00000313565.6:p.Gly640Arg
ENST00000320492.11:c.1576G>C	ENSP00000315607.7:p.Gly526Arg
ENST00000357036.9:c.1834G>C	ENSP00000349540.5:p.Gly612Arg
ENST00000358929.8:c.2005G>C	ENSP00000351807.5:p.Gly669Arg
ENST00000380553.8:c.1411G>C	ENSP00000369926.4:p.Gly471Arg
ENST00000380562.8:c.1837G>C	ENSP00000369936.4:p.Gly613Arg
ENST00000380575.8:c.1732G>C	ENSP00000369949.4:p.Gly578Arg
ENST00000380576.9:c.1762G>C	ENSP00000369950.5:p.Gly588Arg
ENST00000380584.8:c.1675G>C	ENSP00000369958.4:p.Gly559Arg
ENST00000414324.5:c.1747G>C	ENSP00000392575.1:p.Gly583Arg
ENST00000429192.5:c.1777G>C	ENSP00000391129.1:p.Gly593Arg
ENST00000445912.5:c.1819G>C	ENSP00000389857.1:p.Gly607Arg
ENST00000458204.5:c.1789G>C	ENSP00000403162.1:p.Gly597Arg
ENST00000621115.4:c.1552G>C	ENSP00000480955.1:p.Gly518Arg
NM_000501.3:c.1819G>C	NP_000492.2:p.Gly607Arg
NM_001081752.2:c.1732G>C	NP_001075221.1:p.Gly578Arg
NM_001081753.2:c.1777G>C	NP_001075222.1:p.Gly593Arg
NM_001081754.2:c.1834G>C	NP_001075223.1:p.Gly612Arg
NM_001081755.2:c.1762G>C	NP_001075224.1:p.Gly588Arg
NM_001278912.1:c.1819G>C	NP_001265841.1:p.Gly607Arg
NM_001278913.1:c.1576G>C	NP_001265842.1:p.Gly526Arg
NM_001278914.1:c.1747G>C	NP_001265843.1:p.Gly583Arg
NM_001278915.1:c.1837G>C	NP_001265844.1:p.Gly613Arg
NM_001278916.1:c.1675G>C	NP_001265845.1:p.Gly559Arg
NM_001278917.1:c.1789G>C	NP_001265846.1:p.Gly597Arg
NM_001278918.1:c.1552G>C	NP_001265847.1:p.Gly518Arg
NM_001278939.1:c.2005G>C	NP_001265868.1:p.Gly669Arg
XM_005250187.1:c.1783G>C	XP_005250244.1:p.Gly595Arg
XM_005250188.1:c.1777G>C	XP_005250245.1:p.Gly593Arg
XM_011515868.1:c.1834G>C	XP_011514170.1:p.Gly612Arg
XM_011515869.1:c.1804G>C	XP_011514171.1:p.Gly602Arg
XM_011515870.1:c.1798G>C	XP_011514172.1:p.Gly600Arg
XM_011515871.1:c.1792G>C	XP_011514173.1:p.Gly598Arg
XM_011515872.1:c.1780G>C	XP_011514174.1:p.Gly594Arg
XM_011515873.1:c.1777G>C	XP_011514175.1:p.Gly593Arg
XM_011515874.1:c.1768G>C	XP_011514176.1:p.Gly590Arg
XM_011515875.1:c.1753G>C	XP_011514177.1:p.Gly585Arg
XM_011515876.1:c.1834G>C	XP_011514178.1:p.Gly612Arg
XM_011515877.1:c.1723G>C	XP_011514179.1:p.Gly575Arg
XM_005250187.2:c.1783G>C	XP_005250244.1:p.Gly595Arg
XM_005250188.2:c.1777G>C	XP_005250245.1:p.Gly593Arg
XM_011515868.2:c.1834G>C	XP_011514170.1:p.Gly612Arg
XM_011515871.2:c.1792G>C	XP_011514173.1:p.Gly598Arg
XM_011515872.2:c.1780G>C	XP_011514174.1:p.Gly594Arg
XM_011515873.2:c.1777G>C	XP_011514175.1:p.Gly593Arg
XM_011515875.2:c.1753G>C	XP_011514177.1:p.Gly585Arg
XM_011515876.2:c.1834G>C	XP_011514178.1:p.Gly612Arg
XM_011515877.2:c.1723G>C	XP_011514179.1:p.Gly575Arg
XM_017011813.1:c.1747G>C	XP_016867302.1:p.Gly583Arg
XM_017011814.2:c.1735G>C	XP_016867303.1:p.Gly579Arg
NM_000501.4:c.1819G>C MANE Select	NP_000492.2:p.Gly607Arg
NM_001081752.3:c.1732G>C	NP_001075221.1:p.Gly578Arg
NM_001081753.3:c.1777G>C	NP_001075222.1:p.Gly593Arg
NM_001081754.3:c.1834G>C	NP_001075223.1:p.Gly612Arg
NM_001081755.3:c.1762G>C	NP_001075224.1:p.Gly588Arg
NM_001278912.2:c.1819G>C	NP_001265841.1:p.Gly607Arg
NM_001278913.2:c.1576G>C	NP_001265842.1:p.Gly526Arg
NM_001278914.2:c.1747G>C	NP_001265843.1:p.Gly583Arg
NM_001278915.2:c.1837G>C	NP_001265844.1:p.Gly613Arg
NM_001278916.2:c.1675G>C	NP_001265845.1:p.Gly559Arg
NM_001278917.2:c.1789G>C	NP_001265846.1:p.Gly597Arg
NM_001278918.2:c.1552G>C	NP_001265847.1:p.Gly518Arg
NM_001278939.2:c.2005G>C	NP_001265868.1:p.Gly669Arg